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Items: 1 to 20 of 100

1.

[New mutation in a Spanish family with hereditary hyperferritinemia-cataract syndrome].

Santotoribio JD, García de la Torre Á, Cañavate Solano C, Toral Peña A.

Med Clin (Barc). 2014 Jan 21;142(2):93. doi: 10.1016/j.medcli.2013.07.007. Epub 2013 Sep 8. Spanish. No abstract available.

PMID:
24022025
2.

Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype.

Giansily-Blaizot M, Cunat S, Moulis G, Schved JF, Aguilar-Martinez P.

Haematologica. 2013 Apr;98(4):e42-3. doi: 10.3324/haematol.2012.077198. Epub 2013 Jan 8. No abstract available.

3.

Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families.

Nonnenmacher L, Langer T, Blessing H, Gabriel H, Buchwald HJ, Meneksedag C, Kohne E, Gencik M, Debatin KM, Cario H.

Klin Padiatr. 2011 Nov;223(6):346-51. doi: 10.1055/s-0031-1287825. Epub 2011 Oct 21.

PMID:
22020773
4.

Hereditary hyperferritinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39 > G mutation of L-ferritin IRE.

Papanikolaou G, Chandrinou H, Bouzas E, Contopoulos-Ioannidis D, Kalotychou V, Prentzas K, Lilakos K, Asproudis I, Palaiologou D, Premetis E, Papassotiriou I, Sakellaropoulos N.

Blood Cells Mol Dis. 2006 Jan-Feb;36(1):33-40. Epub 2006 Jan 5.

PMID:
16406710
5.

[Isolated hyperferritinemia in a healthy male infant: hereditary hyperferritinemia-cataract syndrome].

Cervera Bravo A, Sebastían Planas M, Alarabe Alarabe A, Díez Sáenz A, Avilés Egea MJ, Balas Pérez A.

An Esp Pediatr. 2000 Mar;52(3):267-70. Spanish. Erratum in: An Esp Pediatr 2000 Jun;52(6):568.

PMID:
11003906
6.

Description of a new mutation in the L-ferrin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family.

Balas A, Aviles MJ, Garcia-Sanchez F, Vicario JL.

Blood. 1999 Jun 1;93(11):4020-1. No abstract available.

7.

Raised serum ferritin concentration in hereditary hyperferritinemia cataract syndrome is not a marker for iron overload.

Yin D, Kulhalli V, Walker AP.

Hepatology. 2014 Mar;59(3):1204-6. doi: 10.1002/hep.26681. Epub 2014 Jan 27.

8.

A new family with hereditary hyperferritinemia cataract syndrome.

Tuysuz G, Ozdemir N, Sonmez E, Kannengiesser C, Celkan T.

Genet Couns. 2013;24(4):393-7.

PMID:
24551982
9.

Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia.

Tsantoula F, Kioumi A, Germenis AE, Speletas M.

J Pediatr Hematol Oncol. 2014 Jul;36(5):e304-6. doi: 10.1097/MPH.0b013e31829f3835.

PMID:
24983587
10.

Hereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the L-ferritin gene.

Arosio C, Fossati L, Viganò M, Trombini P, Cazzaniga G, Piperno A.

Haematologica. 1999 Jun;84(6):560-1. No abstract available.

11.

Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA.

Cazzola M, Bergamaschi G, Tonon L, Arbustini E, Grasso M, Vercesi E, Barosi G, Bianchi PE, Cairo G, Arosio P.

Blood. 1997 Jul 15;90(2):814-21.

12.

Hereditary hyperferritinemia-cataract syndrome (HHCS) presenting with iron deficiency anemia associated with a new mutation in the iron responsive element of the L ferritin gene in a Swiss family.

Rüfer A, Howell JP, Lange AP, Yamamoto R, Heuscher J, Gregor M, Wuillemin WA.

Eur J Haematol. 2011 Sep;87(3):274-8. doi: 10.1111/j.1600-0609.2011.01607.x. Epub 2011 Apr 6.

PMID:
21410535
13.

Hereditary hyperferritinemia-cataract syndrome. Study of a new family in Spain.

Ladero JM, Balas A, García-Sánchez F, Vicario JL, Díaz-Rubio M.

Rev Esp Enferm Dig. 2004 Jul;96(7):507-9, 510-1. English, Spanish.

14.

FTL gene mutation and persistent hyperferritinemia without iron deficiency anemia after phlebotomy.

Pallotti F, Elli L, Maroni P, Chelazzi P, Agosti M, Casalone R.

Clin Chem Lab Med. 2015 Sep 1;53(10):e275-7. doi: 10.1515/cclm-2014-1045. No abstract available.

PMID:
25720123
15.

A point mutation in the iron-responsive element of the L-ferritin in a family with hereditary hyperferritinemia cataract syndrome.

Wong K, Barbin Y, Chakrabarti S, Adams P.

Can J Gastroenterol. 2005 Apr;19(4):253-5.

PMID:
15861269
16.

Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene.

Muñoz-Muñoz J, Cuadrado-Grande N, Moreno-Carralero MI, Hoyos-Sanabria B, Manubes-Guarch A, González AF, Tejada-Palacios P, Del-Castillo-Rueda A, Morán-Jiménez MJ.

Clin Genet. 2013 May;83(5):491-3. doi: 10.1111/j.1399-0004.2012.01934.x. Epub 2012 Aug 13. No abstract available.

PMID:
22881709
17.

Prevalence of hereditary hyperferritinemia-cataract syndrome in blood donors and patients with cataract.

Bozzini C, Galbiati S, Tinazzi E, Aldigeri R, De Matteis G, Girelli D.

Haematologica. 2003 Feb;88(2):219-20. No abstract available.

18.

Identification of the mutations associated with hereditary hyperferritinemia cataract syndrome and hemochromatosis in a Brazilian family.

Meneses FG, Schnabel B, Silva ID, Alberto FL, Toma L, Nader HB, Lopes CC.

Clin Genet. 2011 Feb;79(2):189-92. doi: 10.1111/j.1399-0004.2010.01517.x. No abstract available.

PMID:
21210779
19.

[Hyperferritinemia, ferropenia and metabolic syndrome in a patient with a new mutation of gene TFR2 and another in gene FTL. A family study].

Del Castillo-Rueda A, Moreno-Carralero MI, Cuadrado-Grande N, Méndez M, Morán-Jiménez MJ.

Med Clin (Barc). 2011 Jun 11;137(2):68-72. doi: 10.1016/j.medcli.2011.02.023. Epub 2011 Apr 27. Spanish.

PMID:
21524769
20.

A novel deletion in the iron-response element of the L-ferritin gene, causing hyperferritinaemia cataract syndrome.

Garber I, Pudek M.

Ann Clin Biochem. 2014 Nov;51(Pt 6):710-3. doi: 10.1177/0004563214542289. Epub 2014 Jun 16.

PMID:
24936091

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